Aphallia is a rare urogenital anomaly. It usually coexists with other serious anomalies, which are incompatible with normal life. We present herewith a 18-month-old child who presented with aphallia and urethro-scrotal fistula along with stones in the bla­dder and urethra. The stones were removed and the fistula was surgically corrected.

Aphallia is a rare urogenital anomaly. It usually coexists with other serious anomalies such as cardiovascular anomalies, which are incompatible with normal life; such infants are delivered stillbirth, or live for a short period of time. We present herewith an 18­months-old boy with aphallia associated with congenital urethro-rectal fistula, bla­dder and urethral stones.

Case Report

An 18-month-old child was referred to the urology clinic of our institution for gender assignment. The child's parents were first cousins. The child was the first baby of this family and was delivered in the eight month of gestation by cesarean sec­tion; the birth weight was 2.5 kg. There was no history of such anomaly in the pa­rents' families. The child's mother was a young normal lady with no history of use of any drugs or exposure to x-ray during pregnancy.

On physical examination, the child looked normally developed and examination of the heart, lungs, abdomen, head and neck were all normal. The child's phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens. The penis was absent and there was no voiding per urethra. The voided urine was mixed with fecal material. On the seven­teenth day of age he had undergone open cystostomy at the district hospital. The suprapubic catheter had been changed every two weeks; however, he was still passing most part of the urine from the rectum. Urine analysis and culture confirmed asymp­tomatic bacteriuria. His blood biochemistry and routine hematologic tests were normal.

Renal ultrasonography, plain x-ray of the abdomen, intravenous pyelogram, chest x­ray, wrist x-ray and antegrade cystography were normal except for the presence of three large bladder and three small urethral stones on plain x-ray [Figure - 1]A. Intera­venous pyelogram confirmed reflux of con­trast media from his urethra to the des­cending colon and rectum. His genotype was 46XY.

In the first part of his management, all bladder and urethral stones were disintegrated and aspirated through the cystostomy tract, by Swiss lithoclast and Elixs evacua­tor. Stone composition was calcium phos­phate and culture of stone fragments sho­wed Klelbsiella pneumoniae and Proteus mirabilis. Antegrade urethoscopy confirmed normally located verumontanum. The ure­thra had an opening into the rectum about 2.5-3 cm distal to the bladder neck. A retro­grade urethrocystoscopy confirmed the pre­sence of a urethro-rectal fistula [Figure - 1]B.

Following the stone clearance, the patient underwent closure of the fistula under general anesthesia. Using the perineal approach, the urethra was exposed and divided from the urethro-rectal junction. The rectum was closed with two layers using running 3-0 vicryl and separate 3-0 silk sutures respectively. The urethra was then dissected free from its underlying connective tissue up nearly to the bladder neck to establish a perineal urethrostomy. A cystography showed complete closure of urethro-rectal fistula. He was discharged home without catheter with urinary conti­nence.

His family was highly reluctant to raise the child as a boy. He needs an ulnar forearm free flap for total phallic reconstruction and urethroplasty after attaining puberty.

Discussion

Penile agenesis is an extremely uncommon congenital anomaly with a reported inci­dence of 1/10 to 1/30 million births.[1] It should be differentiated from severe hypospadias, severe epispadias, intrauterine penile ampu­tation, pseudohermaphroditism, concealed penis and micropenis.[2] It is embryologi­cally caused by maldevelopment of genital tubercle. In one reported case, the mother had uncontrolled diabetes mellitus and two other cases had abnormal karyotype. How­ever, less than 100 cases of aphallia have been reported so far. This anomaly usually coexists with other anomalies, which are incompatible with normal life such as bla­dder and renal agenesis. Associated genitourinary anomalies are seen in up to 54% of the patients.[4] The various genitourinary and non genitourinary anomalies associated with congenital aphallia are shown in [Table - 1],[Table - 2].[3] Our patient case had none of these associated anomalies.

In most cases, aphallia is associated with communication of the urinary tract and rectum, which can be at the anal verge or higher as presented in this case. Skoog and Belman proposed a classification system for penile agenesis where it has been empha­sized that the position of the urethral ope­ning has a bearing on the prognosis. A more proximal urethral opening results in a greater number of associated anomalies and higher mortality.[5]

Despite recent advances in total penile reconstruction, the recommended surgical treatment for patients with aphallia is early sex assignment to the female gender. Bila­teral orchidectomy is advocated in the first few days of life to avoid further androgen exposure. Vaginoplasty and estrogen therapy is advocated in adulthood for breast development and other female sexual charac­teristics. Some authors perform a single stage reconstruction as a salvage procedure. Sepa­ration of the urinary and fecal streams must be achieved at an early stage

Lastly, the idea of raising the child as a boy is a major challenge; our patient re­mained a boy as per the preference of the parents as well as the prevailing socioeco­nomic conditions. There is a possibility of using the ulnar forearm free flap for vascu­larised total phallic reconstruction after pu­berty. We expect, with the advances that have occurred in in-vitro fertilization, that it may be possible for these patients to have a child.